V44I (p.Val44Ile) variant of CASR (P41180)
V44I (p.Val44Ile) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- rs2074530467
- ClinGen CA354362193
- ClinVar RCV001360501
- ClinVar RCV002486509
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available